A patient with albinism and retinitis pigmentosa, a case report.

Purpose: To present a case of molecularly confirmed oculocutaneous albinism (OCA) and retinitis pigmentosa (RP). Observations: A 46-year-old male with a lifelong established diagnosis of OCA and baseline best corrected visual acuity (BCVA) of 20/200, presented for worsening visual acuity over the last few years. BCVA was light perception and hand motion at face for the right and left eye, respectively. Fundus exam showed hypopigmented fundi with visible choroidal vessels and blunted foveal reflexes in both eyes. Optical coherence tomography showed foveal hypoplasia and outer retinal degenerative changes not typical of OCA. Fundus autofluorescence (FAF) imaging showed focal areas of decreased signal at the fovea, similar to areas of atrophy in an age matched patient with PDE6A-RP. Genetic testing identified a homozygous disease-causing variant in TYR c.1467dup, p. (Ala490Cysfs*20) causing OCA, and a homozygous pathogenic variant c.304C > A, p. (Arg102Ser) in PDE6A causing autosomal recessive RP. Conclusions and importance: This is the first report of a patient with OCA and RP. The lack of pigmentary changes can make the diagnosis of RP challenging in patients with albinism. FAF can show features suggestive of RP and genetic testing can establish the diagnosis. The findings described herein may help physicians diagnose an extremely rare phenotype.

Posterior Segment Manifestations of Syphilis and Correlation With Serologic Markers of Infection.

BACKGROUND AND OBJECTIVE: Retrospective analysis correlating serologic titers of ocular syphilis with posterior segment manifestations. PATIENTS AND METHODS: This study consisted of 40 patients (80 eyes imaged, 68 affected) with positive rapid plasma reagin (RPR) and Treponema Pallidum immunoglobulin G. We collected demographic and presentation data including HIV status, absolute CD4 count, RPR, cerebrospinal fluid-venereal disease research laboratory (CSF-VDRL) test, and retinal zone. We categorized imaging into syphilitic outer retinopathy (SOR), acute syphilitic posterior placoid chorioretinopathy, retinitis/chorioretinitis (RC), and papillitis. Multivariate analysis correlated HIV status, RPR, and VDRL titers with posterior segment findings and zone. RESULTS: Mean age of 42.8 ± 10.7 years, with 70% male patients. Presenting visual acuity (logMAR) 0.66 ± 0.74 did not correlate with RPR, nor was it associated with papillitis, RC, or acute syphilitic posterior placoid chorioretinopathy. Higher RPR (≥ 1:128) positively associated with SOR (P = 0.031) and zone 1 (odds ratio [OR], 1.62; P = 0.02), but negatively associated with zone 2 (OR 0.35; P = 0.005). HIV positivity increased RC odds (OR, 4.45; P = 0.047). CONCLUSION: Higher RPR correlated with SOR and zone 1, whereas HIV positivity correlated with RC. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].

Documented Reperfusion of the Retina on Fluorescein Angiography after Administration of Intravenous Prostaglandin E1 for Central Retinal Artery Occlusion: A Case Report.

Central retinal artery occlusion (CRAO) can result in devastating permanent vision loss. Presently, there is no evidence-based treatment for CRAO that is widely accepted. In the literature, multiple studies propose intravenous (IV) prostaglandin E1 (IV PGE1) as a potential treatment option for patients with CRAO. We illustrate 2 cases of CRAO successfully treated with IV PGE1. In both cases, our patients with vascular risk factors were diagnosed with CRAO of the left eye. They were started on twice daily IV 40 µg PGE1 in 100 mL normal saline, with each dose administered over 3 h. In the first case, we documented reperfusion of the retina on fluorescein angiography after administration of IV PGE1. In the second case, our patient improved from no light perception visual acuity (VA) to count fingers VA within 48 h of treatment with IV PGE1. Our study highlights the vasodilatory effect of IV PGE1. Due to its mechanism of action and safety profile, it should be considered a potential treatment option for CRAO. Further randomized controlled trials are necessary to determine the overall therapeutic effect of IV PGE1 for CRAO.

Demographic and clinical characteristics of age-related distance esotropia.

BACKGROUND: Age-related distance esotropia (ARDE), is an acquired, small, comitant esodeviation that is greater at distance than at near. It occurs in older adult patients without a history of neurological event or prior strabismus. It has been observed more frequently in White adults than in other racial groups. The purpose of this study was to assess the demographic and clinical characteristics of patients with ARDE presenting at a tertiary neuro-ophthalmology clinic. METHODS: In this retrospective study, ICD-9/10 (ICD-9 378.85 and ICD-10 H51.8) codes were used to identify all patients with ARDE from 2005 to 2020 seen in a single tertiary neuro-ophthalmology clinic. ARDE was defined as esotropia greater at distance than near with associated clinical signs of adnexal tissue laxity. Patients with history or findings compatible with other etiologies of strabismus, such as thyroid eye disease, neuromuscular disorders, sensory deviations, sudden onset of diplopia, and high myopia, as well as those with prior strabismus surgery, were excluded. RESULTS: A total of 89 patients (59 females [66%]) met inclusion criteria. Mean patient age was 76.6 years. All patients were White except for a single patient of African descent. Mean follow-up time was 25.2 months. Mean esodeviation at distance on presentation was 6.6Δ. Of the 87 patients electing nonsurgical treatment, 80 achieved remission of diplopia symptoms with prism therapy alone. Of the 89 patients, 59 had no neuroimaging. CONCLUSIONS: ARDE in our neuro-ophthalmology clinic population was diagnosed almost exclusively in older White adults. Prism therapy was effective for a majority of our patients.

Temporal Alterations of Sphingolipids in Optic Nerves After Indirect Traumatic Optic Neuropathy.

Purpose: To identify optic nerve (ON) lipid alterations associated with sonication-induced traumatic optic neuropathy (TON). Design: Experimental study. Subjects: A mouse model of indirect TON was generated using sound energy concentrated focally at the entrance of the optic canal using a laboratory sonifier with a microtip probe. Methods: Analyses of datasets generated from high-performance liquid chromatography-electrospray tandem mass spectrometry of ONs dissected from the head of the ON to the optic chiasm at 1 day, 7 days, and 14 days postsonication compared with that in nonsonicated controls. Main Outcome Measures: Lipid abundance alterations in postsonicated ONs were evaluated using 1-way analysis of variance (false discovery rate-adjusted significant P value < 0.01), lipid-related gene sets, biochemical properties, and receiver operating characteristic to identify lipids associated with optic neuropathy. Results: There were 28 lipid species with significantly different abundances across the control and postsonication groups. The 2 most significantly upregulated lipids included a sphingomyelin (SM) species, SM(d40:7), and a hexosylceramide (CerG1) species, CerG1(d18:1/24:2). Hexosylceramide (d18:1/24:2) was noted to have a stepwise increasing trend from day 1 to day 14 after sonication-induced optic neuropathy. Investigation of biophysical properties showed notable enrichment of lipids with high and above-average transition temperatures at day 14 after sonication. Lipid-related gene set analysis revealed enrichment in sphingolipid and glycosphingolipid metabolic processes. The best classifier to differentiate day 14 postsonication from controls, based on area under the receiver operating characteristic curve, was CerG1(d18:1/24:2) (area under the receiver operating characteristic curve: 1). Conclusions: Temporal alterations in sphingolipid metabolism and biochemical properties were observed in the ON of mice after sonication-induced optic neuropathy, with notable elevations in sphingomyelin and hexosylceramide species. Hexosylceramide (d18:1/24:2) may be associated with damage after indirect trauma, indicating that lipid membrane abnormalities may be a mediator of pathology due to trauma.

Mitochondrial Triglyceride Dysregulation in Optic Nerves Following Indirect Traumatic Optic Neuropathy.

The purpose of this work is to identify mitochondrial optic nerve (ON) lipid alterations associated with sonication-induced traumatic optic neuropathy (TON). Briefly, a mouse model of indirect TON was generated using sound energy concentrated focally at the entrance of the optic canal using a laboratory sonifier (Branson Digital Sonifier 450, Danbury, CT, USA) with a microtip probe. We performed an analysis of a previously generated dataset from high-performance liquid chromatography-electrospray tandem mass spectrometry (LC-MS/MS). We analyzed lipids from isolated mitochondria from the ON at 1 day, 7 days, and 14 days post-sonication compared to non-sonicated controls. Lipid abundance alterations in post-sonicated ON mitochondria were evaluated with 1-way ANOVA (FDR-adjusted significant p-value < 0.01), debiased sparse partial correlation (DSPC) network modeling, and partial least squares-discriminant analysis (PLS-DA). We find temporal alterations in triglyceride metabolism are observed in ON mitochondria of mice following sonication-induced optic neuropathy with notable depletions of TG(18:1/18:2/18:2), TG(18:1/18:1/18:1), and TG(16:0/16:0/18:1). Depletion of mitochondrial triglycerides may mediate ON damage in indirect traumatic optic neuropathy through loss energy substrates for neuronal metabolism.

Toxoplasma Neuroretinitis.

Neuroretinitis is an inflammatory condition with rapid unilateral vision loss, optic disc edema, and macular star formation. While neuroretinitis is commonly due to infectious causes such as Bartonella henselae, neuroretinitis due to toxoplasmosis is uncommon. A 29-year-old male presents to our neuro-ophthalmology clinic on December 7, 2021, at the University of Arkansas for Medical Sciences with symptoms of left eye pain and blurred vision. Subsequent workup led to the diagnosis and treatment of toxoplasma neuroretinitis. The fundus exam eventually demonstrated a notable macular star. Treatment was well tolerated, and the patient regained total visual acuity in the affected eye. Toxoplasma neuroretinitis is known for a characteristic appearance of optic disc edema prior to appearance of stellate maculopathy with vitreous inflammation and peripheral chorioretinal scars. Although loss of vision due to toxoplasmosis is rare, it should be included as part of the differential diagnosis with pertinent history.

Lateralized Effects in Troxler Fading and Parvo and Magnocellular Processing Tasks after Localized 1Hz rTMS.

Troxler Fading (TF) is a complex visual phenomenon with uncertain mechanisms. This study was performed to test hypotheses concerning the contributions of parvocellular and magnocelluar processing in extrastriate pathways to TF. The study used low-frequency, repetitive Transcranial Magnetic Stimulation (rTMS) delivered at target sites in the parietal, temporal and dorsolateral frontal cortex to alter performance on a TF paradigm and on tests sensitive to parvocellular and magnocellular processing. Nine, right-handed, healthy subjects completed 3 tasks, TF, Texture Detection (TD), and Motion Detection (MD), at baseline and after undergoing 15 minutes of low-frequency rTMS at each cortical site on separate occasions. Results revealed lateralized effects of rTMS on each test. Left temporal stimulation slowed the parvocellular, TD task and it accelerated TF. Right parietal stimulation markedly accelerated TF whereas left parietal stimulation slowed TF. Right frontal stimulation accelerated performance on the magnocellular, MD task. Taken together and in the context of other research studies, the findings suggest hemispheric specialization both for TF and for the parvocellular and magnocellular processing tasks.

Primary mediastinal large B-cell lymphoma in a patient on Fingolimod for relapsing-remitting multiple sclerosis.

BACKGROUND: There are multiple case reports in the literature describing an association between fingolimod and cutaneous neoplasms. OBJECTIVE: Investigate and report a case of a primary mediastinal large B-cell lymphoma in a patient on fingolimod for Relapsing-Remitting Multiple Sclerosis (RRMS). METHODS: Case Report. RESULTS: The patient developed a primary mediastinal large B-cell lymphoma after seven years of treatment with fingolimod. The patient is currently in complete remission after cessation of treatment, surgical resection, chemotherapy, and radiation therapy. CONCLUSION: This case report highlights the first primary mediastinal large B-cell lymphoma associated with fingolimod treatment. It should be considered a rare, but potential adverse effect of fingolimod.

Timing of cataract surgery in patients with giant cell arteritis.

PURPOSE: To determine a safe timeframe and parameters for performing cataract surgery after diagnosis and treatment of giant cell arteritis (GCA). SETTING: Single institution in the United States. DESIGN: Retrospective chart review. METHODS: This retrospective study used ICD-9/10 and Current Procedural Terminology codes to identify all patients with biopsy-proven GCA who underwent cataract surgery from 2005 to 2019 at a single institution. Excluded from the study were patients whose date of biopsy diagnosis or dose of corticosteroids at the time of cataract surgery was unknown. RESULTS: Chart review identified 15 eyes of 10 patients that met inclusion criteria; 80% of patients were women, and mean age was 74.4 years. Two patients had a history of arteritic ischemic optic neuropathy. There were no perioperative or postoperative complications in the 15 eyes that underwent cataract surgery with varying doses of prednisone at the time of surgery (1 to 25 mg daily prednisone ± 10 to 25 mg weekly methotrexate; median prednisone dose of 10.75 mg) and varying time from biopsy diagnosis of GCA to surgery of at least 7 months (median 13.75 months). CONCLUSIONS: Cataract surgery seemed safe for patients with GCA on varying doses of prednisone at the time of surgery at least 7 months from time of biopsy diagnosis. There is a need for a larger cohort of data from neuro-ophthalmologists and cataract surgeons nationally to establish guidelines for safe cataract surgery in patients with GCA.

Idiopathic Intracranial Hypertension Progressing to Venous Sinus Thrombosis, Subarachnoid Hemorrhage, and Stroke.

Idiopathic intracranial hypertension (IIH) is a syndrome characterized by increased intracranial pressure (ICP), the absence of structural lesions on neuroimaging, and normal cerebrospinal fluid composition. Cerebral venous sinus thrombosis (CVST) is a common cause of increased ICP and can be differentiated from IIH with magnetic resonance venography. We describe a young woman with typical IIH who underwent lumbar puncture and was treated with a short course of high-dose corticosteroids followed by acetazolamide. She subsequently developed CVST, subarachnoid hemorrhage, and stroke. Risk factors that may have resulted in CVST are discussed.

Diplopia is better than no plopia!

Idiopathic intracranial hypertension often presents with cranial nerve VI paresis. Infrequently, other cranial nerve dysfunction may occur. We report a case of idiopathic intracranial hypertension that presented with bilateral cranial nerve III paresis. Review of the literature suggests that severe elevation of intracranial pressure may predispose patients with idiopathic intracranial hypertension to cranial nerve III dysfunction.

Review of Giant cell arteritis.

Giant-cell arteritis (GCA) is a systemic autoimmune disease affecting primarily the elderly. Giant cell arteritis can cause sudden and potentially bilateral sequential vision loss in the elderly. Therefore, it is considered a medical emergency in ophthalmology and a significant cause of morbidity in an increasingly aging population. Ophthalmologists need to be able to recognize the classic symptoms and signs of this disease, and then be able to work-up and treat these patients in an efficient manner. An in-depth review of GCA from the literature as well as personal clinical experience follows.